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rs386833913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833913(C;G)
Make rs386833913(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35842443
GeneNPHS1
is asnp
is mentioned by
dbSNPrs386833913
ebirs386833913
HLIrs386833913
Exacrs386833913
Varsomers386833913
Maprs386833913
PheGenIrs386833913
hapmaprs386833913
1000 genomesrs386833913
hgdprs386833913
ensemblrs386833913
gopubmedrs386833913
geneviewrs386833913
scholarrs386833913
googlers386833913
pharmgkbrs386833913
gwascentralrs386833913
openSNPrs386833913
23andMers386833913
23andMe allrs386833913
SNP Nexus

SNPshotrs386833913
SNPdbers386833913
MSV3drs386833913
GWAS Ctlgrs386833913
Max Magnitude0
ClinVar
Risk rs386833913(G;G)
Alt rs386833913(G;G)
Reference rs386833913(C;C)
Significance Probable-Pathogenic
Disease Finnish congenital nephrotic syndrome
Variation info
Gene NPHS1
CLNDBN Finnish congenital nephrotic syndrome
Reversed 1
HGVS NC_000019.9:g.36333345G>C
CLNSRC ClinVar
CLNACC RCV000049887.1,


[PMID 19194555OA-icon.png] Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.